TY - JOUR
T1 - Prolidase deficiency
T2 - Report of a second case with quantitation of the excessively excreted amino acids
AU - Powell, Gerald F.
AU - Kurosky, Alexander
AU - Maniscalco, Rose Mary
N1 - Funding Information:
From the Departments of Pediatrics and Human Biological Chemistry and Genetics, The University of Texas Medical Branch. Supported by a grant (RR-73) from the General Clinical Research Centers Program of the Division of Research Resources, National Institutes of Health and by Grant H-378 from the Robert A. Welch Foundation. *Reprint address: Department of Pediatrics, The University of Texas Medical Branch, Galveston, TX 77550.
PY - 1977/8
Y1 - 1977/8
N2 - The second documented case of prolidase deficiency is presented. Clinical manifestations include chronic otitis media and sinusitis, dermatitis, and splenomegaly. Prolidase is undetectable in the white blood cells of the patient and near or less than the lower range of normal in each parent. The peptide chromatographic pattern of the urine is similar to that of the previously reported patient with prolidase deficiency. The quantity of amino acids excreted in urine per 24 hours is at least three times that of the upper range of normal (of these same amino acids) for the patients age group. More than 80% of the total amino acids excreted are in peptide form. The proline-to-hydroxyproline ratio suggests that the dipeptides are the catabolic products of other proteins in addition to collagen.
AB - The second documented case of prolidase deficiency is presented. Clinical manifestations include chronic otitis media and sinusitis, dermatitis, and splenomegaly. Prolidase is undetectable in the white blood cells of the patient and near or less than the lower range of normal in each parent. The peptide chromatographic pattern of the urine is similar to that of the previously reported patient with prolidase deficiency. The quantity of amino acids excreted in urine per 24 hours is at least three times that of the upper range of normal (of these same amino acids) for the patients age group. More than 80% of the total amino acids excreted are in peptide form. The proline-to-hydroxyproline ratio suggests that the dipeptides are the catabolic products of other proteins in addition to collagen.
UR - http://www.scopus.com/inward/record.url?scp=0017386359&partnerID=8YFLogxK
UR - http://www.scopus.com/inward/citedby.url?scp=0017386359&partnerID=8YFLogxK
U2 - 10.1016/S0022-3476(77)80820-2
DO - 10.1016/S0022-3476(77)80820-2
M3 - Article
C2 - 874681
AN - SCOPUS:0017386359
SN - 0022-3476
VL - 91
SP - 242
EP - 246
JO - The Journal of Pediatrics
JF - The Journal of Pediatrics
IS - 2
ER -